Primary Ciliary Dyskinesia (PCD): A Case Study
Primary Ciliary Dyskinesia (PCD)
PCD also known as immotile cilia syndrome is a rare autosomal recessive genetic disorder caused by a defect in the tiny hairs (cilia) lining the respiratory tracts, Specifically, it is a defect in a gene coding for left-right dynein (LRD) a key structural protein in cilia (Chodhari et al., 2004) and is usually inherited as an autosomal recessive trait, although other modes of inheritance have been reported (Krawczynski and Witt, 2004).
Clinical picture of PCD PCD causes chronic cough, sinusitis and brochiectasis, and half of patients also show situs inversus (McManus et al., 2006).
Management of PCD Using gene and small molecule therapy to restore ciliary function research is in progress, but it is …show more content…
Involved bronchi become dilated and thus less able to clear secretions. These secretions increase the amount of bacteria in the lungs, consequently, airway obstruction and further damage of the airways (Colledge et al., 2010).
Clinical features of bronchiectasis Some people with bronchiectasis may have a cough productive of frequent green/yellow or without coloration. Dry bronchiectasis may also present with coughing up blood without sputum production. Recurrent bronchial infections and breathlessness are two possible indicators of bronchiectasis (Colledge et al., 2010). On auscultation, crepitations and expiratory rhonchi may be heard. Nail clubbing is a rare finding (Hill et al., 2011).
Diagnosis of bronchiectasis Bronchiectasis may be diagnosed clinically or on review of imaging (Miller, 2006). The British Thoracic Society recommends all non cystic-fibrosis-related bronchiectasis be confirmed by CT (Hill et al., 2011). CT may reveal tree-in-bud abnormalities, dilated bronchi, and cysts with defined borders (Colledge et al., 2010). Other investigations typically performed at diagnosis include blood tests, sputum cultures, and sometimes tests for specific genetic disorders (Colledge et al.,
PCD also known as immotile cilia syndrome is a rare autosomal recessive genetic disorder caused by a defect in the tiny hairs (cilia) lining the respiratory tracts, Specifically, it is a defect in a gene coding for left-right dynein (LRD) a key structural protein in cilia (Chodhari et al., 2004) and is usually inherited as an autosomal recessive trait, although other modes of inheritance have been reported (Krawczynski and Witt, 2004).
Clinical picture of PCD PCD causes chronic cough, sinusitis and brochiectasis, and half of patients also show situs inversus (McManus et al., 2006).
Management of PCD Using gene and small molecule therapy to restore ciliary function research is in progress, but it is …show more content…
Involved bronchi become dilated and thus less able to clear secretions. These secretions increase the amount of bacteria in the lungs, consequently, airway obstruction and further damage of the airways (Colledge et al., 2010).
Clinical features of bronchiectasis Some people with bronchiectasis may have a cough productive of frequent green/yellow or without coloration. Dry bronchiectasis may also present with coughing up blood without sputum production. Recurrent bronchial infections and breathlessness are two possible indicators of bronchiectasis (Colledge et al., 2010). On auscultation, crepitations and expiratory rhonchi may be heard. Nail clubbing is a rare finding (Hill et al., 2011).
Diagnosis of bronchiectasis Bronchiectasis may be diagnosed clinically or on review of imaging (Miller, 2006). The British Thoracic Society recommends all non cystic-fibrosis-related bronchiectasis be confirmed by CT (Hill et al., 2011). CT may reveal tree-in-bud abnormalities, dilated bronchi, and cysts with defined borders (Colledge et al., 2010). Other investigations typically performed at diagnosis include blood tests, sputum cultures, and sometimes tests for specific genetic disorders (Colledge et al.,